A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Anders Børglum, Thomas Balslev, Annette Haagerup, N Birkebaek, Helle Glud Binderup, T A Kruse, Jens Michael Hertz

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a approximately 30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Human Genetics
Vol/bind9
Udgave nummer10
Sider (fra-til)753-7
Antal sider5
ISSN1018-4813
DOI
StatusUdgivet - 2001

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